Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome

disorder

SNOMED 774102003CUI C1847522

Overview

Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abducens nerve paralysis

Frequent (30-79%)HP:0006897

Baby eczema

Frequent (30-79%)HP:0001047

Blepharophimosis

Frequent (30-79%)HP:0000581

Cone-shaped end part of the toe bones

Frequent (30-79%)HP:0010164

Crowded maxillary incisors

Frequent (30-79%)HP:0006333

Esotropia

Frequent (30-79%)HP:0000565

Eyelid ptosis

Frequent (30-79%)HP:0000508

Hyperopic astigmatism

Frequent (30-79%)HP:0000484

Increased size of mandible

Frequent (30-79%)HP:0000303

Lateral deviation of halluces

Frequent (30-79%)HP:0001822

Mental retardation, mild

Frequent (30-79%)HP:0001256

Obesity

Frequent (30-79%)HP:0001513

Small upper jaw

Frequent (30-79%)HP:0000327

ASD

Occasional (5-29%)HP:0000729

Cone-shaped end part of the 3rd toe bone

Occasional (5-29%)HP:0100057

Cone-shaped epiphyses of the 2nd toe

Occasional (5-29%)HP:0100046

Cone-shaped epiphyses of the 4th toe

Occasional (5-29%)HP:0100068

Husky voice

Occasional (5-29%)HP:0001609

hyperkinetic disorder

Occasional (5-29%)HP:0000752

Hyponasal speech

Occasional (5-29%)HP:0100271

Increased intercanthal distance

Occasional (5-29%)HP:0000506

IQ less than 20

Occasional (5-29%)HP:0002187

Large head

Occasional (5-29%)HP:0000256

Large hypophysial fossa

Occasional (5-29%)HP:0002690

Severe psychomotor retardation

Occasional (5-29%)HP:0011344

Squint

Occasional (5-29%)HP:0000486

Cone-shaped epiphyses

HP:0010579

Decreased visual acuity

HP:0007663

Poor school performance

HP:0001249

Poor vision

HP:0000505

Related Conditions

Hereditary disorder of the visual system(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of the integument(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Congenital anomaly of visual system(parent)

Congenital anomaly of skin(parent)

Disorder of eye region(parent)

Developmental hereditary disorder(parent)

Genetic obesity disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 774102003
UMLS CUI: C1847522
Fully Specified Name: Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.